Page last updated: 2024-08-18

tecnazene and Distal Myopathies

tecnazene has been researched along with Distal Myopathies in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (40.00)29.6817
2010's2 (40.00)24.3611
2020's1 (20.00)2.80

Authors

AuthorsStudies
Gardberg, M; Hackman, P; Jokela, M; Kiiski, K; Lehtokari, VL; Pelin, K; Sagath, L; Udd, B; Välipakka, S; Vihola, A; Wallgren-Pettersson, C1
Abbs, S; Anderson, G; Cirak, S; Cullup, T; Feng, L; Jacques, TS; Jungbluth, H; Manzur, AY; Muntoni, F; Scoto, M; Sewry, C; Yau, S1
Figarella-Branger, D; Franques, J; Herczegfalvi, A; Huebner, A; Karcagi, V; Lehtokari, VL; Lochmüller, H; Pelin, K; Pellissier, JF; Pouget, J; Schoser, B; von der Hagen, M; Wallgren-Pettersson, C1
Laing, NG1
Hackman, P; Kalimo, H; Lehtokari, VL; Nuutinen, E; Paetau, A; Pelin, K; Sewry, C; Udd, B; Wallgren-Pettersson, C1

Reviews

1 review(s) available for tecnazene and Distal Myopathies

ArticleYear
More surprises in sarcomeric protein diseases.
    Brain : a journal of neurology, 2007, Volume: 130, Issue:Pt 6

    Topics: Distal Myopathies; Humans; Muscle Proteins; Mutation; Sarcomeres

2007

Other Studies

4 other study(ies) available for tecnazene and Distal Myopathies

ArticleYear
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin.
    Neuromuscular disorders : NMD, 2021, Volume: 31, Issue:6

    Topics: Adult; Biopsy; Distal Myopathies; Exons; Facial Muscles; Female; Finland; Heterozygote; Humans; Mosaicism; Muscle Proteins; Muscle Weakness; Mutation; Myotonia Congenita; Pedigree; Sequence Deletion

2021
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
    European journal of human genetics : EJHG, 2013, Volume: 21, Issue:11

    Topics: Adult; Age of Onset; Biopsy; Child; Child, Preschool; Distal Myopathies; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Muscle Proteins; Muscle, Skeletal; Mutation; Phenotype

2013
Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.
    Neuromuscular disorders : NMD, 2011, Volume: 21, Issue:8

    Topics: Adolescent; Biopsy; Child; Diagnosis, Differential; Distal Myopathies; Female; France; Humans; Hungary; Male; Middle Aged; Muscle Proteins; Muscle, Skeletal; Mutation; Myopathies, Nemaline

2011
Distal myopathy caused by homozygous missense mutations in the nebulin gene.
    Brain : a journal of neurology, 2007, Volume: 130, Issue:Pt 6

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biopsy; Distal Myopathies; Female; Fingers; Humans; Leg; Male; Microscopy, Electron; Middle Aged; Muscle Fibers, Skeletal; Muscle Proteins; Muscle Weakness; Muscle, Skeletal; Mutation, Missense; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational

2007